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GENATLAS PHENOTYPE
last update : 05-07-2016
Symbol CJS
Location 7q32.1
Name Curry-Jones syndrome
Corresponding gene SMO
Main clinical features
  • multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas
  • preaxial polydactyly and syndactyly of the hands and/or feet
  • mild to moderate mental retardation
  • Genetic determination not applicable
    Function/system disorder mental retardation
    osteo-articular
    dermatology
    eye
    Type disease
    Remark(s)
  • major phenotypic features of CJS are attributable to excessive activation of HH signaling owing to a specific c.1234C>T (p.Leu412Phe) somatic mutation (PMID: 27236920))